A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12046097



Internal ID512313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124113104..124116078hg38UCSC Ensembl
Innerchr5:124113165..124116018hg38UCSC Ensembl
Outerchr5:124113044..124116139hg38UCSC Ensembl
chr5:123448797..123451771hg19UCSC Ensembl
Innerchr5:123448858..123451711hg19UCSC Ensembl
Outerchr5:123448737..123451832hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg382975
hg192975
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606625
Supporting Variants
SamplesHG00183
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12046097
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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